Table 2

Clinical features of Down syndrome

Craniofacial▸ Flattened occiput
▸ Large tongue
Ocular▸ Oblique palpebral fissures
▸ Median epicanthic folds
▸ Brushfield spots in the iris
Auditory▸ Conductive hearing loss
Somatic▸ Reduced linear growth
▸ Short incurved fifth finger
▸ Single palmar crease
▸ Abnormal dermatoglyphics
Neurological▸ Learning difficulty (average IQ 50)
▸ Hypotonia
▸ Epilepsy (in ∼6%)—especially infantile spasms
▸ Early onset dementia (in 1/3)
Haematological▸ Impaired immune function
▸ Increased risk of leukaemia